What are the other Names for this Condition? (Also known as/Synonyms)

• Acquired Tracheoesophageal Fistula
• Congenital Tracheoesophageal Fistula
• Tracheoesophageal Fistula with or without Esophageal Atresia

What is Tracheoesophageal Fistula? (Definition/Background Information)

• Tracheoesophageal Fistula (TEF) is a life-threatening condition in which there is an abnormal connection between the esophagus and trachea (windpipe). The esophagus and trachea run next to each other through the chest cavity. The esophagus carries food and saliva to the stomach, while the trachea carries air to the lungs
• TEF can lead to severe and fatal lung complications. Saliva and gastric secretions can be aspirated into the lungs, and normal swallowing and digestion of food cannot occur
• Most affected people are diagnosed immediately after birth or during infancy. Symptoms may include frothy bubbles of mucus in the mouth and nose; episodes of coughing and choking; and worsening symptoms during feeding
• Tracheoesophageal Fistula may be isolated, or it may occur with other physical or developmental abnormalities (most commonly, esophageal atresia)
• In many cases the cause is unknown but it has been associated with some chromosome disorders. In some cases it may be acquired later in life after a cancer, infection, ruptured diverticula, or trauma
• The treatment of Tracheoesophageal Fistula includes immediate surgical repair with survival rates of almost 100%

(Source: Tracheoesophageal Fistula; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

• Tracheoesophageal Fistula may either be congenital or acquired secondary to pre-existing conditions

Who gets Tracheoesophageal Fistula? (Age and Sex Distribution)

• Tracheoesophageal Fistula is a rare congenital disorder. The presentation of symptoms may occur at birth in the congenital form
• The acquired form of Tracheoesophageal Fistula may occur at any age, but is typically observed in adults
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Tracheoesophageal Fistula? (Predisposing Factors)

• A positive family history may be an important risk factor, since Tracheoesophageal Fistula can be inherited
• The risk factors for the acquired form of Tracheoesophageal Fistula may include:
• Tracheal injury
• Tumors of the esophagus, trachea, lungs, larynx, thyroid glands or lymph nodes in the vicinity of trachea and esophagus
• Ruptured diverticula
• Infections

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Tracheoesophageal Fistula? (Etiology)

• The exact genetic cause of the inherited form of Tracheoesophageal Fistula is not presently known. It is believed that the cause of TEF may be multi-factorial
• The majority of acquired Tracheoesophageal Fistula occur in the cervico-thoracic junction, and may be caused by:
• Tumors and cancers of the esophagus, trachea, larynx, lungs, thyroid glands or lymph nodes
• Trauma to the trachea (both blunt and penetrating)
• Previous surgery in the trachea or esophagus
• Esophageal stent placement
• Endoscopy (esophageal or tracheal)
• Intubation
• Percutaneous tracheostomy (placing a tracheostomy tube without actually surgical visual of the trachea)
• Granulomatous infections
• Small camera battery ingestion (particularly in children)
• Poisonous gas or corrosive liquid exposure

What are the Signs and Symptoms of Tracheoesophageal Fistula?

The signs and symptoms of Tracheoesophageal Fistula may include:

• Esophageal atresia
• Tracheoesophageal fistula

(Source: Tracheoesophageal Fistula; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

• Feeding difficulty in newborns
• Uncontrolled cough after swallowing
• Bubbles of mucus in mouth and throat that may be frothy
• Frequent choking episodes
• Hoarseness
• Infection of the respiratory tract
• Fever from unknown cause
• Chest pain

How is Tracheoesophageal Fistula Diagnosed?

Tracheoesophageal Fistula is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Tracheoesophageal Fistula?

The complications of Tracheoesophageal Fistula may include:

• Failure to thrive in the neonatal period
• Weight loss due to difficulties with swallowing food
• Respiratory distress
• Recurrent infections of the respiratory tract
• Pneumonia

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Tracheoesophageal Fistula Treated?

Treatment for Tracheoesophageal Fistula involves surgical repair of the abnormality soon after diagnosis.

How can Tracheoesophageal Fistula be Prevented?

• The congenital form of Tracheoesophageal Fistula may not be preventable, since it is believed to have a genetic basis
• Taking precautions against trauma to the cervico-thoracic region may help prevent the acquired form of Tracheoesophageal Fistula
• Additionally, seeking immediate medical attention for pre-existing conditions that may lead to Tracheoesophageal Fistula can help prevent the fistula from developing
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Tracheoesophageal Fistula? (Outcomes/Resolutions)

• The prognosis of Tracheoesophageal Fistula is dependent upon accurate diagnosis and prompt treatment
• Without proper treatment, both the congenital and acquired forms of Tracheoesophageal Fistula can lead to serious complications and fatality

Additional and Relevant Useful Information for Tracheoesophageal Fistula:

Tracheoesophageal Fistula may also be known by the following additional terms:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/